Friday, August 30, 2013

God's Plan Being Revealed

Today, we went to the endocrinologist. This was on the recommendation of the nephrologist. Well, we got a diagnosis for Princess: pseudohypoaldosteronism type 2 (PHA2).

Here's what the National Institute of Health's Genetics Home Reference says about it:
Pseudohypoaldosteronism type 2 (PHA2) is a condition characterized by problems regulating the amount of sodium and potassium in the body. Sodium and potassium are important in the control of blood pressure, and their regulation occurs primarily in the kidneys.
People with PHA2 have high blood pressure (hypertension) and high levels of potassium in their blood (hyperkalemia) despite having normal kidney function (normal glomerular filtration rate). The age of onset of the condition is variable and difficult to pinpoint; some affected individuals are diagnosed in infancy or childhood, and others are diagnosed in adulthood. Hyperkalemia usually occurs first, and hypertension develops later in life. Affected individuals may also have high levels of chloride (hyperchloremia) or acid (metabolic acidosis) in their blood. People with hyperkalemia, hyperchloremia, and metabolic acidosis can have nonspecific symptoms like nausea, vomiting, extreme tiredness (fatigue), and muscle weakness. (website)
So this explains everything. We knew the hypertension was causing the damage to the heart. The treatment for the PHA2 is one of the medications she is already on. She's on such a minuscule dose though, so I suspect we will be going to a therapeutic dose of it probably on Tuesday when we see Dr. K.

This condition is rare! They're really not sure of the prevalence of it. My mom has been doing research on it and has found things about it that were published LAST YEAR! They've known about it for about 35 years, but are just starting to find out the genetic background for it. There's probably going to be more that's found out about it in the coming years as it is related to hypertension and there is money going to hypertension research.

Anyway, why did I title this "God's Plan Being Revealed"? Well, had Princess not been born premature we may never have known about this at all. She could have died of SIDS that would have really been the cardiomyopathy, the hypertension, a heart attack, a stroke, the hyperkalemia, anything really. But instead, God saw fit to have her born premature so that the doctors were watching things like her blood pressure and her renal function right from the moment she was born. She has already brought Glory to His Name. So no matter what happens, it's okay. No matter what issues she has, we'll be fine. She may not be that tall, but that's okay. She may always have to be on medication, but we'll live. By all means, it could be a whole lot worse than what it is. At least this disorder is treatable. We'll just continue to take it day by day and see what happens.

Yeah, I was totally shell-shocked to have this huge phrase thrown at me. And yeah, I had a moment of "this poor child is going to have to be on medication the rest of her life." But my God is with us and He will see us through. No matter what happens, we're going to be okay.

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